Metyrapone as treatment in the neonatal McCune–Albright syndrome

2020 ◽  
Vol 33 (8) ◽  
pp. 1093-1096
Author(s):  
Carmen de Mingo ◽  
María Brugada ◽  
Sara León ◽  
Francisca Moreno ◽  
Nieves Vila ◽  
...  
Keyword(s):  
Cushing’S Syndrome ◽  
Laboratory Data ◽  
Bone Dysplasia ◽  
High Volume ◽  
Abdominal Ultrasound ◽  
Cushing's Syndrome ◽  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
Albright Syndrome ◽  
Mccune Albright

AbstractObjectivesTo present a case report of succesfully metyrapone treatment of a neonatal patient with McCune–Albrigth syndrome (MAS), a rare disease caused by a genetically mosaic disorder and is characterized by variable hyperfunctional endocrinopathies, bone dysplasia, and café-au-lait spots.Case presentationA preterm newborn was admitted to hospital and she presented difficulty controlling hypertension, café-au-lait spots, and failure to thrive. An abdominal ultrasound and a magnetic resonance showed a high volume of both suprarenal glands. Therefore, MAS was suspected. Laboratory data confirmed adrenocorticotropic hormone-independent Cushing’s syndrome with hepatic dysfunction and metyrapone treatment was initiated. A progressive normalization of cortisol levels was achieved despite poor oral tolerance.ConclusionOur case shows that metyrapone is useful in the management of neonatal Cushing’s syndrome due to McCune–Albright syndrome.

Cushing’s syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome

1999 ◽  
Vol 134 (6) ◽  
pp. 789-792 ◽  
Author(s):  
Jeremy M.W. Kirk ◽  
Caroline E. Brain ◽  
Dennis J. Carson ◽  
John C. Hyde ◽  
David B. Grant
Keyword(s):  
Cushing’S Syndrome ◽  
Cushing's Syndrome ◽  
Adrenal Hyperplasia ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright

Isolated Cushing’s Syndrome: An Unusual Presentation of McCune-Albright Syndrome in the Neonatal Period

2009 ◽  
Vol 72 (5) ◽  
pp. 315-319 ◽  
Author(s):  
Françoise Paris ◽  
Pascal Philibert ◽  
Serge Lumbroso ◽  
Nadège Servant ◽  
Nicolas Kalfa ◽  
...  
Keyword(s):  
Cushing’S Syndrome ◽  
Neonatal Period ◽  
Cushing's Syndrome ◽  
Unusual Presentation ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright

Atypical Femoral Fracture in McCune-Albright Syndrome

2020 ◽  
Vol 7 (3) ◽  
pp. 147-152
Author(s):  
Salman Ghaffari ◽  
◽  
Mehran Razavipour ◽  
Parastoo Mohammad Amini ◽  
◽  
...  
Keyword(s):  
Femoral Fracture ◽  
Dynamic Compression ◽  
Plate Fixation ◽  
Medullary Canal ◽  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
History Of ◽  
Albright Syndrome ◽  
Mccune Albright

McCune-Albright Syndrome (MAS) is characterized by endocrinopathies, café-au-lait spots, and fibrous dysplasia. Bisphosphonates are the most prescribed treatment for reducing the pain but their long-term use has been associated with atypical fractures of cortical bones like femur in patients. We present a 23-year-old girl diagnosed with MAS. She had an atypical mid-shaft left femoral fracture that happened during simple walking. She also had a history of long-term use of alendronate. Because of the narrow medullary canal, we used 14 holes hybrid locking plate for the lateral aspect of the thigh to fix the fracture and 5 holes dynamic compression plate (instead of the intramedullary nail) in the anterior surface to double fix it, reducing the probability of device failure. With double plate fixation and discontinuation of alendronate, the complete union was achieved five months after surgery

scholarly journals Treatment of precocious puberty in a McCune–Albright syndrome patient using Chinese medicinal herbs combined with megestrol acetate: A case report

2018 ◽  
Vol 01 (01) ◽  
pp. 69-74
Author(s):  
Wen Sun ◽  
Yonghong Wang ◽  
Jian Yu ◽  
Min Ji
Keyword(s):  
Precocious Puberty ◽  
Bone Dysplasia ◽  
Medicinal Herbs ◽  
Megestrol Acetate ◽  
Chinese Medicinal Herbs ◽  
Gene Encoding ◽  
Mccune Albright Syndrome ◽  
Activating Mutation ◽  
Albright Syndrome ◽  
Mccune Albright

Introduction: McCune–Albright Syndrome (MAS) is a rare congenital sporadic disorder characterized by fibrous bone dysplasia, café-au-lait pigmented spots on the skin, and non-gonadotropin dependent precocious puberty (PP), which is caused by a postzygotic somatic activating mutation in the GNAS gene encoding the alpha subunit of Gs protein. In our case study, we recorded a girl with the onset of MAS and treated her with Chinese medicinal herbs combined with megestrol acetate. We aim to provide a method for the treatment of children with this rare form of precocious puberty. Case Presention: A 4-year-old girl presented with vaginal bleeding and enlarged breasts. The activating mutation of GNAS was not detected in the patient’s peripheral blood samples, as some had reported. Because of peripheral PP and fibrous dysplasia of the diagnosed bone, the patient was considered as MAS. We chose the Chinese medicinal herbs combined with megestrol acetate for treatment, and the patient was effectively treated. Conclusion: The combination therapy of Chinese medicinal herbs plus megestrol acetate in managing PP in an MAS is one of the useful treatments.

scholarly journals McCune Albright Syndrome: A Case Report

2020 ◽  
Vol 40 (2) ◽  
pp. 134-137
Author(s):  
Subhana Thapa Karki ◽  
Vandana Jain
Keyword(s):  
Case Report ◽  
Fibrous Dysplasia ◽  
Precocious Puberty ◽  
Genetic Disease ◽  
Clinical Presentation ◽  
Endocrine Disorders ◽  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
Albright Syndrome ◽  
Mccune Albright

McCune Albright syndrome (MAS) is a very rare genetic disease characterised by any two of the following three findings: café au lait spots, polyosteotic fibrous dysplasia and endocrine disorders. The clinical presentation of MAS may vary depending on which of the various components of the syndrome predominate. Here, we report one case of MAS presenting with precocious puberty.

scholarly journals McCune-Albright Syndrome and Acromegaly: Effects of Hypothalamopituitary Radiotherapy and/or Pegvisomant in Somatostatin Analog-Resistant Patients

2006 ◽  
Vol 91 (12) ◽  
pp. 4957-4961 ◽  
Author(s):  
Françoise Galland ◽  
Peter Kamenicky ◽  
Hélène Affres ◽  
Yves Reznik ◽  
Dominique Pontvert ◽  
...  
Keyword(s):  
Radiation Field ◽  
Somatostatin Analogs ◽  
Bone Dysplasia ◽  
Treatment Modalities ◽  
Mccune Albright Syndrome ◽  
Sarcomatous Transformation ◽  
Small Series ◽  
Igf I ◽  
Albright Syndrome ◽  
Mccune Albright

Abstract Background: Acromegaly, which may be present in patients with McCune-Albright syndrome (MCAS), in association with café-au-lait spots, precocious puberty, and fibrous dysplasia, is often difficult to treat surgically because skull base bone dysplasia prevents the removal of the pituitary adenoma. Somatostatin analogs (SAs) generally give only partial responses. The use of radiotherapy (RT) is controversial because of a possible risk of bone sarcomatous transformation. Aim: This study was a retrospective analysis of the efficacy and adverse effects of different treatment modalities in six patients with both MCAS and acromegaly. Patients and Methods: Because surgery was impossible and SA failed to normalize GH/IGF-I hypersecretion, five of the six patients received fractionated RT (45–55 Grays). Three patients (two with previous RT) were also prescribed pegvisomant. We analyzed the clinical features of acromegaly, GH, and IGF-I concentrations and bone radiological features. Results: GH and IGF-I concentrations fell after RT (median follow-up, 5 yr; range, 0.5–9 yr). Symptoms of acromegaly improved in parallel. Bone sarcomatous transformation was only noted in one patient in a region (the mandible) outside the radiation field. RT alone and/or combined with SA failed to normalize GH/IGF-I levels in the five patients concerned. In contrast, IGF-I levels normalized very rapidly (5–9 months) in the three patients receiving pegvisomant (10–20 mg/d). Conclusion: RT may be an option for the treatment of acromegaly in patients with MCAS when surgery is impossible and SA therapy is ineffective. However, although no bone sarcomatous transformation was observed within the radiation field in this series, this risk cannot be ruled out. As shown in this small series of severely affected patients, pegvisomant therapy may thus be useful to normalize IGF-I levels rapidly.

scholarly journals “Café-Au-Lait Spots” Caused by Vitiligo in McCune-Albright Syndrome

2000 ◽  
Vol 15 (12) ◽  
pp. 2521-2523
Author(s):  
Michael P. Whyte ◽  
Michelle N. Podgornik ◽  
Jan Zerega ◽  
William R. Reinus
Keyword(s):  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
Albright Syndrome ◽  
Mccune Albright

scholarly journals Delayed Diagnosis of McCune–Albright Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Bereket Fantahun ◽  
Seblewongel Desta
Keyword(s):  
Genetic Disorder ◽  
Delayed Diagnosis ◽  
Female Child ◽  
Pathological Fractures ◽  
Mccune Albright Syndrome ◽  
Case Presentation ◽  
Café Au Lait Spots ◽  
Care Outcomes ◽  
Albright Syndrome ◽  
Mccune Albright

Background. McCune–Albright syndrome (MAS) is a rare heterogeneous genetic disorder that is characterized by a triad of polyostotic fibrous dysplasia (FD), café au lait spots (CAL), and multiple hyperfunctional endocrinopathies. In general, it is diagnosed clinically. From the triads, two of the findings are enough to make the diagnosis, but genetic testing can be done if it is available. Case Presentation. We report a female child who was symptomatic since the neonatal period with skin hyperpigmentation, breast enlargement, and vaginal bleeding. She was diagnosed with MAS at the age of five years. She had pathological fractures at multiple sites and had raised thyroid hormones since the age of 3½ years. The child developed severe morbidity as the result of delayed diagnosis and currently became wheelchair dependent. Conclusion. Thorough patient evaluation and appropriate interpretation of findings are crucial steps for timely diagnosis of MAS and better patient care outcomes.

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